Canonical Allele Identifier: CA918111513

Gene: CFTR

Linked Data

• dbSNP Id: rs1584786778

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117535080_117535097del , CM000669.2:g.117535080_117535097del	GRCh38
NC_000007.13:g.117175134_117175151del , CM000669.1:g.117175134_117175151del	GRCh37
NC_000007.12:g.116962370_116962387del	NCBI36
NG_016465.4:g.74297_74314del , LRG_663:g.74297_74314del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.580-168_580-151del	ENSP00000497673.2:n.580-168_580-151del
ENST00000647978.2:c.*477-168_*477-151del	ENSP00000497658.1:n.*477-168_*477-151del
ENST00000649781.2:c.580-168_580-151del	ENSP00000497203.1:n.580-168_580-151del
ENST00000685018.2:c.580-168_580-151del	ENSP00000510194.2:n.580-168_580-151del
ENST00000687278.2:c.580-168_580-151del	ENSP00000509593.2:n.580-168_580-151del
ENST00000699585.1:c.580-168_580-151del	ENSP00000514456.1:n.580-168_580-151del
ENST00000699596.1:c.580-168_580-151del	ENSP00000514465.1:n.580-168_580-151del
ENST00000699597.1:c.580-168_580-151del	ENSP00000514466.1:n.580-168_580-151del
ENST00000699598.1:c.580-168_580-151del	ENSP00000514467.1:n.580-168_580-151del
ENST00000699599.1:c.580-168_580-151del	ENSP00000514468.1:n.580-168_580-151del
ENST00000699600.1:c.580-168_580-151del	ENSP00000514469.1:n.580-168_580-151del
ENST00000699601.1:c.580-168_580-151del	ENSP00000514470.1:n.580-168_580-151del
ENST00000699602.1:c.580-168_580-151del	ENSP00000514471.1:n.580-168_580-151del
ENST00000699604.1:c.*404-168_*404-151del	ENSP00000514472.1:n.*404-168_*404-151del
ENST00000699605.1:c.337-168_337-151del	ENSP00000514473.1:n.337-168_337-151del
ENST00000003084.11:c.580-168_580-151del MANE Select	ENSP00000003084.6:n.580-168_580-151del
ENST00000647978.1:c.*477-168_*477-151del	ENSP00000497658.1:n.*477-168_*477-151del
ENST00000648260.1:c.580-168_580-151del	ENSP00000497957.1:n.580-168_580-151del
ENST00000649406.1:c.580-168_580-151del	ENSP00000497965.1:n.580-168_580-151del
ENST00000649781.1:c.580-168_580-151del	ENSP00000497203.1:n.580-168_580-151del
ENST00000673785.1:c.337-168_337-151del	ENSP00000501235.1:n.337-168_337-151del
ENST00000003084.10:c.580-168_580-151del	ENSP00000003084.6:n.580-168_580-151del
ENST00000426809.5:c.490-168_490-151del	ENSP00000389119.1:n.490-168_490-151del
NM_000492.3:c.580-168_580-151del , LRG_663t1:c.580-168_580-151del	NP_000483.3:n.580-168_580-151del
XM_011515751.1:c.670-168_670-151del	XP_011514053.1:n.670-168_670-151del
XM_011515752.1:c.670-168_670-151del	XP_011514054.1:n.670-168_670-151del
XM_011515753.1:c.337-168_337-151del	XP_011514055.1:n.337-168_337-151del
XM_011515754.1:c.337-168_337-151del	XP_011514056.1:n.337-168_337-151del
NM_000492.4:c.580-168_580-151del MANE Select	NP_000483.3:n.580-168_580-151del